{"count":2,"next":null,"previous":null,"results":[{"gene_data":{"alias":["KIAA0698","CPL"],"biotype":"protein_coding","hgnc_id":"HGNC:4866","gene_name":"hephaestin","omim_gene":["300167"],"alias_name":null,"gene_symbol":"HEPH","hgnc_symbol":"HEPH","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:65382391-65488709","ensembl_id":"ENSG00000089472"}},"GRch38":{"90":{"location":"X:66162549-66268867","ensembl_id":"ENSG00000089472"}}},"hgnc_date_symbol_changed":"1999-05-07"},"entity_type":"gene","entity_name":"HEPH","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","UKGTN"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":159,"hash_id":"58a70e858f62037e8779b2e8","name":"Cytopenias and congenital anaemias","disease_group":"Haematological disorders","disease_sub_group":"Anaemias and red cell disorders","status":"public","version":"1.73","version_created":"2019-09-23T11:25:32.403071Z","relevant_disorders":["Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria","Apparent aplastic anaemia or paroxysmal nocturnal haemoglobinuria","Congenital anaemias","Early onset pancytopenia and red cell disorders","Anaemias and red cell disorders","Cytopaenias and congenital anaemias","Cytopenia and pancytopenia"],"stats":{"number_of_genes":219,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["KIAA0698","CPL"],"biotype":"protein_coding","hgnc_id":"HGNC:4866","gene_name":"hephaestin","omim_gene":["300167"],"alias_name":null,"gene_symbol":"HEPH","hgnc_symbol":"HEPH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:65382391-65488709","ensembl_id":"ENSG00000089472"}},"GRch38":{"90":{"location":"X:66162549-66268867","ensembl_id":"ENSG00000089472"}}},"hgnc_date_symbol_changed":"1999-05-07"},"entity_type":"gene","entity_name":"HEPH","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","North West GLH","Yorkshire and North East GLH","NHS GMS","Wessex and West Midlands GLH"],"phenotypes":[],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":515,"hash_id":null,"name":"Iron metabolism disorders","disease_group":"","disease_sub_group":"","status":"public","version":"1.1","version_created":"2019-09-23T14:47:26.293257Z","relevant_disorders":["R96"],"stats":{"number_of_genes":26,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"GMS Rare Disease","slug":"gms-rare-disease","description":"This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"},{"name":"GMS signed-off","slug":"gms-signed-off","description":"This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."}]}}]}